BioNews to Cover 3 Rare Disease Day Events, Including NIH Conference

In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families.

The three are among 50 events in 32 states and the District of Columbia planned by patient advocacy groups to mark #RareDiseaseDay, which calls attention to illnesses that afflict about 30 million people nationwide, and an estimated 400 million worldwide.

“This is an opportunity for patients, caregivers, medical professionals and industry representative to come together and educate elected officials about rare diseases and what it’s like to live with or care for someone with a rare disease,” according to a statement from NORD, an umbrella coalition of 270 patient advocacy groups.

Lesley Bennett, Connecticut state volunteer ambassador for NORD, said 200 people are likely to attend. The bipartisan gathering, now in its sixth year, will open with speeches by state House Speaker Joe Aresimowicz, a Democrat, and Senate President Len Fasano, a Republican.

Also on the agenda are presentations by Emily Germain-Lee, MD, director of the Center for Rare Bone Disorders at Connecticut Children’s Medical Center in Hartford, and Thomas Carpenter, MD, of Yale School of Medicine, who will discuss phosphate metabolism disorders.

Greta Stifel, 59, is a rare cancer patient with neuroendocrine tumors, also known as NETS. A resident of Milford, she has advanced stage 4 metastatic cancer, which is incurable.

“Because we are rare, we have struggles that most others would never have to deal with, including the minefield of trying to find the right medical team and treatment protocols. Many times, this means having to cross state lines to get treated,” Stifel, founder and president of the Stifle Cancer Foundation, told BioNews in an email. “Having to do battles with the insurance companies to cover services, treatments and prescriptions is a whole other dynamic. There isn’t even a specialist in my state who treats what I have.”

“Join us for a discussion with our scientist panel to learn more about the widespread impact of rare diseases, how next-generation sequencing has uncovered the genes responsible more than 50 percent of all rare diseases, how the genomic study of rare diseases has advanced understanding of all diseases, and cutting-edge methods to analyze genetic variants responsible for rare disease risks,” said an invitation letter from the New York Genome Center, which covers 170,000 square feet, including 30,000 square feet of sequencing lab space.

Also planned is a keynote speech by Rep. Leonard Lance of New Jersey, the Republican co-chair of the 103-member bipartisan Congressional Rare Disease Caucus, and a talk by NIH Director Francis S. Collins.

Pulmonary Fibrosis News

Disclaimer:

Pulmonary Fibrosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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